Genetic polymorphism analysis of 40 Y-chromosomal STR loci in seven populations from South China. 2018

Changhui Liu, and Xiaolong Han, and Yunbing Min, and Hong Liu, and Quyi Xu, and Xingyi Yang, and Shuqin Huang, and Zucong Chen, and Chao Liu
Guangzhou Forensic Science Institute, Guangzhou, Guangdong 510030, People's Republic of China. Electronic address: liuchanghui2007@163.com.

China is a multi-ethnic country. Due to its diverse terrain, many ethnic groups are geographically isolated within China. This phenomenon is especially prevalent in southern China. As Y-STR loci are paternally inherited, they can be used to effectively understand the genetic relationship between different populations and thus aid in forensic science. In this study, forty Y-STR loci were analysed in 2018 unrelated male individuals from the following seven ethnic populations in South China: Yao (n=147), Zhuang (n=225), Gelao (n=156), Miao (n=186), Maonan (n=133), Gin (n=160) and Guangxi Han (n=1011). Using both AGCU Y24 STR and GFS Y24 STR genotyping kits, a total of 335 alleles and 141 haplotypes of three multi-copy loci were observed in these seven populations. The highest GD value of the 40 Y-STR loci in the overall population was 0.9643 for DYS385a/b, while the lowest was 0.4101 for DYS438. Out of the 2018 samples analysed, 1935 distinct haplotypes and 1858 unique haplotypes were observed. The HD value of the total samples was up to 0.9994 and ranged from a low of 0.9908 in the Yao to a high of 0.9999 in the Han population. We found using population structure analysis that the genetic distance is smaller among the seven southern populations (Guangxi Han, Gelao, Yao, Miao, Zhuang, Jing and Maonan) than the northern populations (Tibetan, Korean, Mongolian, Uygur and Hui). We show that the 40 Y-STRs have a high level of polymorphism in the South China ethnic groups and there is a high degree of differentiation among ethnic groups located in geographically distributed and densely populated areas. These data may provide additional resources for forensic applications and population genetic studies.

UI MeSH Term Description Entries
D008297 Male Males
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D005006 Ethnicity A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. Ethnic Groups,Nationality,Ethnic Group,Nationalities
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D016172 DNA Fingerprinting A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population. DNA Fingerprints,DNA Profiling,DNA Typing,Genetic Fingerprinting,DNA Fingerprint,DNA Fingerprintings,DNA Profilings,DNA Typings,Fingerprint, DNA,Fingerprinting, DNA,Fingerprinting, Genetic,Fingerprintings, DNA,Fingerprintings, Genetic,Fingerprints, DNA,Genetic Fingerprintings,Profiling, DNA,Typing, DNA,Typings, DNA
D018895 Microsatellite Repeats A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs). Microsatellite Markers,Pentanucleotide Repeats,Simple Repetitive Sequence,Tetranucleotide Repeats,Microsatellites,Short Tandem Repeats,Simple Sequence Repeats,Marker, Microsatellite,Markers, Microsatellite,Microsatellite,Microsatellite Marker,Microsatellite Repeat,Pentanucleotide Repeat,Repeat, Microsatellite,Repeat, Pentanucleotide,Repeat, Short Tandem,Repeat, Simple Sequence,Repeat, Tetranucleotide,Repeats, Microsatellite,Repeats, Pentanucleotide,Repeats, Short Tandem,Repeats, Simple Sequence,Repeats, Tetranucleotide,Repetitive Sequence, Simple,Repetitive Sequences, Simple,Sequence Repeat, Simple,Sequence Repeats, Simple,Sequence, Simple Repetitive,Sequences, Simple Repetitive,Short Tandem Repeat,Simple Repetitive Sequences,Simple Sequence Repeat,Tandem Repeat, Short,Tandem Repeats, Short,Tetranucleotide Repeat

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